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A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample

Obeidat, M. and Wain, L. V. and Shrine, N. and Soler Artigas M., and Repapi, E. and Burton, P. R. and Johnson, T. and Ramasamy, A. and Zhao, J. H. and Zhai, G. and Huffman, J. E. and Vitart, V. and Albrecht, E. and Igl, W. and Hartikainen, A. L. and Pouta, A. and Cadby, G. and Hui, J. and Palmer, L. J. and Hadley, D. and McArdle, W. L. and Rudnicka, A. R. and Barroso, I. and Loos, R. J. F. and Wareham, N. J. and Mangino, M. and Soranzo, N. and Spector, T. D. and Gläser, S. and Homuth, G. and Völzke, H. and Deloukas, P. and Granell, R. and Henderson, J. and Grkovic, I. and Jankovic, S. and Zgaga, L. and Polasek, O. and Rudan, I. and Wright, A. F. and Campbell, H. and Wild, S. H. and Wilson, J. F. and Heinrich, J. and Imboden, M. and Probst-Hensch N. M., and Gyllensten, U. and Johansson, A. and Zaboli, G. and Mustelin, L. and Rantanen, T. and Surakka, I. and Kaprio, J. and Jarvelin, M. R. and Hayward, C. and Evans, D. M. and Koch, B. and Musk, A. W. and Elliott, P. and Strachan, D. P. and Tobin, M. D. and Sayers, I. and Hall, I. P. and SpiroMeta Consortium, . (2011) A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample. PLoS ONE, Vol. 6, H. 5 , e19382.

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Official URL: http://edoc.unibas.ch/dok/A6002083

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Abstract

RATIONALE: Lung function measures are heritable traits that predict population morbidity and mortality and are essential for the diagnosis of chronic obstructive pulmonary disease (COPD). Variations in many genes have been reported to affect these traits, but attempts at replication have provided conflicting results. Recently, we undertook a meta-analysis of Genome Wide Association Study (GWAS) results for lung function measures in 20,288 individuals from the general population (the SpiroMeta consortium). OBJECTIVES: To comprehensively analyse previously reported genetic associations with lung function measures, and to investigate whether single nucleotide polymorphisms (SNPs) in these genomic regions are associated with lung function in a large population sample. METHODS: We analysed association for SNPs tagging 130 genes and 48 intergenic regions (+/-10 kb), after conducting a systematic review of the literature in the PubMed database for genetic association studies reporting lung function associations. RESULTS: The analysis included 16,936 genotyped and imputed SNPs. No loci showed overall significant association for FEV(1) or FEV(1)/FVC traits using a carefully defined significance threshold of 1.3x10(-5). The most significant loci associated with FEV(1) include SNPs tagging MACROD2 (P = 6.81x10(-5)), CNTN5 (P = 4.37x10(-4)), and TRPV4 (P = 1.58x10(-3)). Among ever-smokers, SERPINA1 showed the most significant association with FEV(1) (P = 8.41x10(-5)), followed by PDE4D (P = 1.22x10(-4)). The strongest association with FEV(1)/FVC ratio was observed with ABCC1 (P = 4.38x10(-4)), and ESR1 (P = 5.42x10(-4)) among ever-smokers. CONCLUSIONS: Polymorphisms spanning previously associated lung function genes did not show strong evidence for association with lung function measures in the SpiroMeta consortium population. Common SERPINA1 polymorphisms may affect FEV(1) among smokers in the general population
Faculties and Departments:09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH) > Department of Epidemiology and Public Health (EPH) > Chronic Disease Epidemiology > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
03 Faculty of Medicine > Departement Public Health > Sozial- und Präventivmedizin > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
UniBasel Contributors:Probst Hensch, Nicole
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Public Library of Science
e-ISSN:1932-6203
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:31 Aug 2018 06:40
Deposited On:27 Feb 2014 15:45

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